ENSMUSG00000074001


Mus musculus

Features
Gene ID: ENSMUSG00000074001
  
Biological name :Klhl40
  
Synonyms : kelch like family member 40 / Klhl40
  
Possible biological names infered from orthology : Q2TBA0
  
Species: Mus musculus
  
Chr. number: 9
Strand: 1
Band: F4
Gene start: 121777607
Gene end: 121783818
  
Corresponding Affymetrix probe sets: 10590417 (MoGene1.0st)   1431043_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000095873
NCBI entrez gene - 72330     See in Manteia.
MGI - MGI:1919580
RefSeq - NM_028202
RefSeq - XM_006512296
RefSeq Peptide - NP_082478
swissprot - A0A0R4J166
Ensembl - ENSMUSG00000074001
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 B3DIV9ENSDARG00000039052Danio rerio
 E9QJ30ENSDARG00000019125Danio rerio
 KLHL40ENSGALG00000005292Gallus gallus
 KLHL40ENSG00000157119Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
A2AUC9 / Klhl41 / Kelch-like protein 41 / O60662* / kelch like family member 41*ENSMUSG0000007530751
Kbtbd8 / Q3UQV5 / Kelch repeat and BTB domain-containing protein 8 / Q8NFY9* / kelch repeat and BTB domain containing 8*ENSMUSG0000003003125
Klhl35 / Q9CZ49 / Kelch-like protein 35 / Q6PF15* / kelch like family member 35*ENSMUSG0000003529824
Klhl24 / Q8BRG6 / Kelch-like protein 24 / Q6TFL4* / kelch like family member 24*ENSMUSG0000006290124
Klhl25 / Q8R2P1 / Kelch-like protein 25 / Q9H0H3* / kelch like family member 25*ENSMUSG0000005565223
Kbtbd2 / kelch repeat and BTB domain containing 2 / Q8IY47*ENSMUSG0000005948623
Klhl6 / Q6V595 / Kelch-like protein 6 / Q8WZ60* / kelch like family member 6*ENSMUSG0000004300823
Q9D618 / Kbtbd12 / Kelch repeat and BTB domain-containing protein 12 / Q3ZCT8* / kelch repeat and BTB domain containing 12*ENSMUSG0000003318222
Klhl29 / Q80T74 / Kelch-like protein 29 / Q96CT2* / kelch like family member 29*ENSMUSG0000002062722
Enc1 / O35709 / Ectoderm-neural cortex protein 1 / O14682* / ectodermal-neural cortex 1*ENSMUSG0000004177322
Klhl21 / Q3U410 / Kelch-like protein 21 / Q9UJP4* / kelch like family member 21*ENSMUSG0000007370022
Klhl38 / Q8BSF5 / Kelch-like protein 38 / Q2WGJ6* / kelch like family member 38*ENSMUSG0000002235722
Klhl30 / Q8C3F7 / Kelch-like protein 30 / Q0D2K2* / kelch like family member 30*ENSMUSG0000002630821
Klhl23 / Q6GQU2 / Kelch-like protein 23 / Q8NBE8* / kelch like family member 23*ENSMUSG0000004215520
Kbtbd7 / Q86V97* / Q8WVZ9* / KBTBD6* / kelch repeat and BTB domain containing 6* / kelch repeat and BTB domain containing 7*ENSMUSG0000004388119
Kbtbd3 / Q8BHI4 / Kelch repeat and BTB domain-containing protein 3 / Q8NAB2* / kelch repeat and BTB domain containing 3*ENSMUSG0000002589319
Kbtbd6 / uncharacterized protein LOC432879 / Q86V97* / Q8WVZ9* / KBTBD7* / kelch repeat and BTB domain containing 6* / kelch repeat and BTB domain containing 7*ENSMUSG0000007550215


Protein motifs (from Interpro)
Interpro ID Name
 IPR000210  BTB/POZ domain
 IPR006652  Kelch repeat type 1
 IPR011333  SKP1/BTB/POZ domain superfamily
 IPR011705  BTB/Kelch-associated
 IPR015915  Kelch-type beta propeller
 IPR017096  BTB-kelch protein
 IPR030607  Kelch-like protein 40


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0031397 negative regulation of protein ubiquitination IEA
 biological_processGO:0048741 skeletal muscle fiber development IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Klhl40tm1(KOMP)Vlcg/Klhl40tm1(KOMP)Vlcg
Genetic Background: C57BL/6-Klhl40tm1(KOMP)Vlcg

 MP:0000751 myopathy "any abnormal condition or disease of the skeletal muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:42574]
Show

Allelic Composition: Klhl40tm1(KOMP)Vlcg/Klhl40tm1(KOMP)Vlcg
Genetic Background: C57BL/6-Klhl40tm1(KOMP)Vlcg

 MP:0000759 abnormal skeletal muscle morphology "anomalous structure of any of the striated muscle fibers connected at either or both extremeties with the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Klhl40tm1(KOMP)Vlcg/Klhl40tm1(KOMP)Vlcg
Genetic Background: C57BL/6-Klhl40tm1(KOMP)Vlcg

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Rbm5sda/Rbm5sda
Genetic Background: involves: C57BL/6J * CBA

Allelic Composition: E2f1tm1Njd/E2f1tm1Njd,Klhl40tm1.1Itl/Klhl40tm1.1Itl
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6N

Allelic Composition: Klhl40tm1(KOMP)Vlcg/Klhl40tm1(KOMP)Vlcg
Genetic Background: C57BL/6-Klhl40tm1(KOMP)Vlcg

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Klhl40tm1(KOMP)Vlcg/Klhl40tm1(KOMP)Vlcg
Genetic Background: C57BL/6-Klhl40tm1(KOMP)Vlcg

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Klhl40tm1(KOMP)Vlcg/Klhl40tm1(KOMP)Vlcg
Genetic Background: C57BL/6-Klhl40tm1(KOMP)Vlcg

 MP:0002188 small heart "reduced size of the heart relative to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:67044]
Show

Allelic Composition: Klhl40tm1(KOMP)Vlcg/Klhl40tm1(KOMP)Vlcg
Genetic Background: C57BL/6-Klhl40tm1(KOMP)Vlcg

 MP:0002841 impaired skeletal muscle contractility "inability or reduced ability of the skeletal muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Klhl40tm1(KOMP)Vlcg/Klhl40tm1(KOMP)Vlcg
Genetic Background: C57BL/6-Klhl40tm1(KOMP)Vlcg

 MP:0004090 abnormal sarcomere morphology "any structural abnormality in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rbm5sda/Rbm5sda
Genetic Background: involves: C57BL/6J * CBA

Allelic Composition: Klhl40tm1(KOMP)Vlcg/Klhl40tm1(KOMP)Vlcg
Genetic Background: C57BL/6-Klhl40tm1(KOMP)Vlcg

 MP:0004091 abnormal Z lines "any structural abnormality in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Klhl40tm1(KOMP)Vlcg/Klhl40tm1(KOMP)Vlcg
Genetic Background: C57BL/6-Klhl40tm1(KOMP)Vlcg

 MP:0005333 decreased heart rate "fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84764]
Show

Allelic Composition: Klhl40tm1(KOMP)Vlcg/Klhl40tm1(KOMP)Vlcg
Genetic Background: C57BL/6-Klhl40tm1(KOMP)Vlcg

 MP:0008489 postnatal slow weight gain "the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rbm5sda/Rbm5sda
Genetic Background: involves: C57BL/6J * CBA

 MP:0009400 decreased skeletal muscle fiber size "decrease in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rbm5sda/Rbm5sda
Genetic Background: involves: C57BL/6J * CBA

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Rbm5sda/Rbm5sda
Genetic Background: involves: C57BL/6J * CBA

Allelic Composition: Klhl40tm1(KOMP)Vlcg/Klhl40tm1(KOMP)Vlcg
Genetic Background: C57BL/6-Klhl40tm1(KOMP)Vlcg

 MP:0020240 increased skeletal muscle cell apoptosis "increase in the number of skeletal muscle cells undergoing programmed cell death" [GOC:NV]
Show

Allelic Composition: Rbm5sda/Rbm5sda
Genetic Background: involves: C57BL/6J * CBA

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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